Varaico: Literature-Extracted Genetic Variants

Gene:GCH1
Variant:p.W53delFs
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GCH1

NM_000161.3:p.W53delFs

Associated Papers

Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.

Weissbach A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

Atypical presentation of dopa-responsive dystonia in Taiwan.

Weng YC et al.

Brain and Behavior, 2018

Urinary neopterin and phenylalanine loading test as tools for the biochemical diagnosis of segawa disease.

Leuzzi V et al.

Jimd Reports, 2013

A Novel DYT-5 Mutation with Phenotypic Variability within a Colombian Family.

Bernal-Pacheco O et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."